protein KIAA2022 (KIAA2022)

Expression

• highly expressed in fetal & adult brain, predominantly in the cerebral cortex & the cerebellum
• also expressed in other tissues but to a lesser extent

Pathology

• chromosomal inversion inv(X)(p22.3;q13.2) involving KIAA2022 is found in 2 patients with severe mental retardation
• the Xq13 breakpoint lies within a predicted intron of KIAA2022 gene
• KIAA2022 protein is no longer expressed in these patients lymphocytes

More general terms

• uncharacterized protein

Database

• UniProt: http://www.uniprot.org/uniprot/Q5QGS0.html